A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022484



Internal ID18765018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7513944..7894609hg38UCSC Ensembl
Innerchr8:7371466..7752131hg19UCSC Ensembl
Innerchr8:7358876..7789541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38380666
hg19380666
hg18430666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6949n100
Supporting Variantsnssv3680518
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022484
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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